DisGeNET - a database of gene-disease associations

List of associated variants

Fatigue, C0015672

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	Num. diseases
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50	214
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02	97
rs121912438	SOD1	0.605	0.520	21	31667299	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06	58
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05	57
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv		53
rs121913682	KIT	0.605	0.400	4	54733167	missense variant	A/G;T	snv		52
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv		49
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins		45
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins		44
rs1559931177	QRICH1	0.827	0.120	3	49047207	stop gained	G/A	snv		34
rs1331463984	TRAF7	0.701	0.240	16	2176350	missense variant	G/A	snv		33
rs151344517	LOC107985154 ; AFG3L2 ; TUBB6	0.742	0.320	18	12337505	missense variant	C/T	snv		31
rs864321670	ALDH18A1	0.763	0.320	10	95633012	missense variant	C/T	snv		24
rs181109321	TTPA	0.776	0.320	8	63065904	splice region variant	C/A;T	snv	2.0E-05	17
rs3091244	CRP	0.724	0.280	1	159714875	upstream gene variant	G/A;T	snv		17
rs1057523354	COL4A1	0.763	0.480	13	110179387	missense variant	C/A	snv		13
rs4129267	IL6R	0.807	0.200	1	154453788	intron variant	C/G;T	snv		13
rs1289543302	ABCB1	0.763	0.440	7	87536472	missense variant	C/T	snv		12
rs869312697	ARID1B	0.882	0.400	6	157207241	stop gained	C/T	snv		8
rs2295633	FAAH	0.827	0.120	1	46408711	intron variant	A/G;T	snv		7
rs757600616	WARS2	0.882	0.240	1	119033279	stop gained	G/A	snv	1.2E-05	6
rs1555366607	SPTB	1.000	0.080	14	64767787	missense variant	A/G	snv		5
rs1555889984	RUNX1	0.925	0.120	21	34834536	stop gained	C/A	snv		5
rs9332377	ARVCF ; COMT	0.882	0.120	22	19968169	intron variant	C/A;T	snv		5
rs1057518925	COL6A2	1.000	0.120	21	46114006	splice acceptor variant	A/G	snv		4